Canonical Allele Identifier: CA505230729
Gene: MCOLN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2134958
ClinVar RCV Id: RCV003048394
MyVariant Identifiers: chr19:g.7592786C>G (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.7527900C>G , CM000681.2:g.7527900C>G GRCh38
NC_000019.9:g.7592786C>G , CM000681.1:g.7592786C>G GRCh37
NC_000019.8:g.7498786C>G NCBI36
NG_015806.1:g.10291C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000264079.11:c.717C>G MANE Select ENSP00000264079.5:p.Thr239=
ENST00000264079.10:c.717C>G ENSP00000264079.5:p.Thr239=
ENST00000394321.9:n.1032C>G
NM_020533.2:c.717C>G NP_065394.1:p.Thr239=
NM_020533.3:c.717C>G MANE Select NP_065394.1:p.Thr239=
Search 100 bp 5'
Search 100 bp 3'